вЂњIndividuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.вЂќ вЂњRhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.вЂќДel Baldo G, Carta R, Alessi I, Merli P, Agolini E, Rinelli M, Boccuto L, Milano GM, Serra A, Carai A, Locatelli F, Mastronuzzi A.ДЇront Oncol. Hinen HB, Boccuto L, Trenor CC 3rd, Wine Lee L.ДЇront Pediatr. вЂњCorrigendum: Childhood Vascular Tumors.вЂќ вЂњExpansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.вЂќДЄgolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A.Д¬lin Genet.

вЂњEditorial: Recent Advances in Pediatric Cancer Predisposition Syndromes.вЂќДЇront Pediatr. вЂњSARS-CoV-2 Spread Dynamics in Italy: The Calabria Experience.вЂќДЄbenavoli L, Cinaglia P, Procopio AC, Serra R, Aquila I, Zanza C, Longhitano Y, Artico M, Larussa T, Boccuto L, Ricci P, Luzza F. вЂњAnxiety and Gastrointestinal Symptoms Related to COVID-19 during Italian Lockdown.вЂќ Abenavoli L, Cinaglia P, Lombardo G, Boffoli E, Scida M, Procopio AC, Larussa T, Boccuto L, Zanza C, Longhitano Y, Fagoonee S, Luzza F. вЂњGut microbiota and non-alcoholic fatty liver disease: a narrative review.вЂќДЄbenavoli L, Procopio AC, Scarpellini E, Polimeni N, Aquila I, Larussa T, Boccuto L, Luzza F. Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A.Дiagnostics (Basel). вЂњMolecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.вЂќ Larussa T, Abenavoli L, Corea A, Procopio AC, Giubilei L, Vallelunga R, Polimeni N, Suraci E, Marasco R, Imeneo M, Boccuto L, Luzza F.Д®ur Rev Med Pharmacol Sci. вЂњTrends and characteristics associated with dietary triggers and psychological distress in patients with irritable bowel syndrome: a cross-sectional study.вЂќ

вЂњAre probiotics effective in reversing non-alcoholic steatohepatitis?

вЂњComprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.вЂќД¬ooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM.ДЄm J Med Genet A. Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. вЂњPosition effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.вЂќ Predisposition to complex disorders: study of genetic variants affecting the susceptibility to complex disorders such as neurobehavioral disorders, cancer, or COVID-19. Liver and gastrointestinal diseases: investigation of molecular and genetic alterations associated with liver disease, microbiota imbalance, and other gastrointestinal disorders. Phelan-McDermid syndrome (PMS): definition of genotype/phenotype correlation and investigation of the role of SHANK3 and other candidate genes, characterization of clinical variability in patients with PMS, molecular features that can help to identify subgroups, assessment of new potential treatments.Д¬ancer and overgrowth: study of molecular pathways involved in cancer and overgrowth, metabolic profiling of different cancer cell lines, identification of potential biomarkers and molecular targets for treatment, assessment of the efficacy of new drugs. He has been working on pathogenic mechanisms and metabolic profiling of several genetic conditions, in particular, he has been involved with Phelan-McDermid syndrome since 2007,ДЄutism spectrum disorder (ASD): study of candidate genes, characterization of molecular profiles, endophenotyping of various ASD subgroups, biomarkers for early screening and molecular diagnosis of ASD, identification of potential targets for treatment. He has worked as Research Scientist at the Greenwood Genetic Center (Greenwood, SC, USA) and as Chief Scientific Officer for STALICLA,SA (Geneva, Switzerland). He is currently employed as Faculty Member of the School of Nursing at Clemson University. Luigi Boccuto is a clinical geneticist, interesting in autism spectrum disorder and related conditions, such as Phelan-McDermid syndrome, hereditary cancer, overgrowth syndromes and intellectual disability. Catholic University of Sacred Heart (UCSC), Rome, Italy 2002Д¬atholic University of Sacred Heart (UCSC), Rome, Italy 2006Дr.

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